Journal of Neurology

, Volume 259, Issue 11, pp 2278–2286 | Cite as

Frontotemporal lobar degeneration: current knowledge and future challenges

  • Chiara Cerami
  • Elio Scarpini
  • Stefano F. Cappa
  • Daniela Galimberti


Frontotemporal lobar degeneration (FTLD) is one of the most frequent neurodegenerative disorders with a presenile onset. It presents with a spectrum of clinical manifestations, ranging from behavioral and executive impairment to language disorders and motor dysfunction. New diagnostic criteria identified two main cognitive syndromes: behavioral variant frontotemporal dementia (bvFTD) and primary progressive aphasia. Regarding bvFTD, new criteria include the use of biomarkers. According to them, bvFTD can be classified in “possible” (clinical features only), “probable” (inclusion of imaging biomarkers) and “definite” (in the presence of a known causal mutation or at autopsy). Familial aggregation is frequently reported in FTLD, and about 10 % of cases have an autosomal dominant transmission. Microtubule-associated protein tau gene mutations have been the first ones identified, and are generally associated with early onset (40–50 years) and with the bvFTD phenotype. More recently, progranulin gene mutations were recognized in association with the familial form of FTLD and a hexanucleotide repetition in C9ORF72 has been shown to be responsible for familial FTLD and amyotrophic lateral sclerosis. In addition, other genes are linked to rare cases of familiar FTLD. Lastly, a number of genetic risk factors for sporadic forms have also been identified.


Frontotemporal lobar degeneration Tau Progranulin (GRNC9ORF72 Genetics Risk factor 


Conflicts of interest



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Copyright information

© Springer-Verlag 2012

Authors and Affiliations

  • Chiara Cerami
    • 1
  • Elio Scarpini
    • 2
  • Stefano F. Cappa
    • 1
  • Daniela Galimberti
    • 2
  1. 1.Neurorehabilitation Unit, Department of Clinical Neurosciences, San Raffaele Scientific InstituteVita Salute UniversityMilanItaly
  2. 2.Department of Neurological Sciences, Dino Ferrari CenterUniversity of Milan, Fondazione Cà Granda, IRCCS Ospedale Maggiore PoliclinicoMilanItaly

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